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Home > Community > Publications

Papers Citing Disease Ontology

The Disease Ontology has been cited by more than 1,800 publications! These are listed at PubMed and Scopus (subscription required) or in a collection. They are also visually presented by year and publication type on the statistics page.

Scopus citation overview with the yearly count of publications citing each official Disease Ontology article

This snapshot of Scopus' citation overview shows the published Human Disease Ontology articles and the number of publications they have been cited by.
Last updated: Nov 2023

DO Project Publications

To cite your use of the Disease Ontology in your work, please cite one of these publications:

  • Baron, J. A., Johnson, C. S., Schor, M. A., Olley, D., Nickel, L., Felix, V., Munro, J. B., Bello, S. M., Bearer, C., Lichenstein, R., Bisordi, K., Koka, R., Greene, C., & Schriml, L. M. (2023). The DO-KB Knowledgebase: a 20-year journey developing the disease open science ecosystem. Nucleic acids research, gkad1051. Advance online publication. doi: 10.1093/nar/gkad1051; PMID:37953304; PDF.

  • Schriml L. M., Lichenstein R., Bisordi K., Bearer C., Baron J. A., Greene C. (2023). Modeling the enigma of complex disease etiology (2023). J Transl Med. 2023 Feb 25; 21(1):148. doi: 10.1186/s12967-023-03987-x; PMID:36829165; PDF.
  • Baron J. A., Schriml L. M. (2023). Assessing resource use: a case study with the Human Disease Ontology. Database (Oxford). 2023 Feb 28. doi: 10.1093/database/baad007; PMID:36856688; PDF.

  • Schriml, L. M., Munro, J. B., Schor, M., Olley, D., McCracken, C., Felix, V., Baron, J. A., Jackson, R., Bello, S. M., Bearer, C., Lichenstein, R., Bisordi, K., Dialo, N. C., Giglio, M., & Greene, C. (2022). The Human Disease Ontology 2022 update. Nucleic Acids Research, 50(D1), D1255–D1261. doi:10.1093/nar/gkab1063; PMID:34755882; PDF.
  • Schriml, L. M., Mitraka, E., Munro, J., Tauber, B., Schor, M., Nickle, L., Felix, V., Jeng, L., Bearer, C., Lichenstein, R., Bisordi, K., Campion, N., Hyman, B., Kurland, D., Oates, C. P., Kibbey, S., Sreekumar, P., Le, C., Giglio, M., & Greene, C. (2019). Human Disease Ontology 2018 update: Classification, content and workflow expansion. Nucleic Acids Research, 47(D1), D955–D962. doi:10.1093/nar/gky1032; PMID:30407550; PDF.
  • Bello, S. M., Shimoyama, M., Mitraka, E., Laulederkind, S. J. F., Smith, C. L., Eppig, J. T., & Schriml, L. M. (2018). Disease Ontology: Improving and unifying disease annotations across species. Disease Models & Mechanisms, 11(3). doi:10.1242/dmm.032839; PMID:29590633; PDF.
  • Schriml, L. M., & Mitraka, E. (2015). The Disease Ontology: Fostering interoperability between biological and clinical human disease-related data. Mammalian Genome, 26(9), 584–589. doi:10.1007/s00335-015-9576-9; PMID:26093607; PDF.
  • Wu, T. J., Schriml, L. M., Chen, Q. R., Colbert, M., Crichton, D. J., Finney, R., Hu, Y., Kibbe, W. A., Kincaid, H., Meerzaman, D., Mitraka, E., Pan, Y., Smith, K. M., Srivastava, S., Ward, S., Yan, C., & Mazumder, R. (2015). Generating a focused view of disease ontology cancer terms for pan-cancer data integration and analysis. Database : the journal of biological databases and curation, 2015, bav032. doi:10.1093/database/bav032; PMID:25841438; PDF.
  • Kibbe, W. A., Arze, C., Felix, V., Mitraka, E., Bolton, E., Fu, G., Mungall, C. J., Binder, J. X., Malone, J., Vasant, D., Parkinson, H., & Schriml, L. M. (2015). Disease Ontology 2015 update: An expanded and updated database of human diseases for linking biomedical knowledge through disease data. Nucleic Acids Research, 43(D1), D1071–D1078. doi:10.1093/nar/gku1011; PMID:25348409; PDF.
  • Schriml, L. M., Arze, C., Nadendla, S., Chang, Y.-W. W., Mazaitis, M., Felix, V., Feng, G., & Kibbe, W. A. (2012). Disease Ontology: A backbone for disease semantic integration. Nucleic Acids Research, 40(D1), D940–D946. doi:10.1093/nar/gkr972; PMID:22080554; PDF.
  • Osborne, J. D., Flatow, J., Holko, M., Lin, S. M., Kibbe, W. A., Zhu, L. (Julie), Danila, M. I., Feng, G., & Chisholm, R. L. (2009). Annotating the human genome with Disease Ontology. BMC Genomics, 10(1), S6. doi:10.1186/1471-2164-10-S1-S6; PMID:19594883; PDF.
  • Du, P., Feng, G., Flatow, J., Song, J., Holko, M., Kibbe, W. A., & Lin, S. M. (2009). From disease ontology to disease-ontology lite: Statistical methods to adapt a general-purpose ontology for the test of gene-ontology associations. Bioinformatics, 25(12), i63–i68. doi:10.1093/bioinformatics/btp193; PMID:19478018; PDF.

DO Collaborative Publications

  • CIViCdb 2022: evolution of an open-access cancer variant interpretation knowledgebase (2023). PMID:36373660
  • Diseasomics: Actionable machine interpretable disease knowledge at the point-of-care (2022). PMID:36812614
  • A comprehensive update on CIDO: the community-based coronavirus infectious disease ontology (2022). PMID:36271389
  • A community approach to the cancer-variant-interpretation bottleneck (2022). PMID:35624339
  • COVID-19 biomarkers and their overlap with comorbidities in a disease biomarker data model (2021). PMID:34015823
  • Wikidata as a knowledge graph for the life sciences (2020). PMID:32180547
  • ECO, the Evidence & Conclusion Ontology: community standard for evidence information (2019). PMID:30407590
  • FoodOn: a harmonized food ontology to increase global food traceability, quality control and data integration (2018). PMID:31304272
  • Wikidata as a semantic framework for the Gene Wiki initiative (2016). PMID:26989148
  • The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease (2015). PMID:26119816
  • Generating a focused view of disease ontology cancer terms for pan-cancer data integration and analysis (2015). PMID:25841438
  • GeMInA, Genomic Metadata for Infectious Agents, a geospatial surveillance pathogen database (2010). PMID:19850722